PHAVER syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Powell-Chandra-Saal syndrome
Number of Symptoms 26
OrphanetNr: 2876
OMIM Id: 261575
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
2
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
3
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
4
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Frequent [Orphanet] 41 / 7739
5
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
6
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
7
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
8
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
9
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
10
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
11
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
12
 (HPO:0001059) Pterygium Very frequent [Orphanet] 16 / 7739
13
 (HPO:0002475) Myelomeningocele Frequent [Orphanet] 29 / 7739
14
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
15
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
16
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
17
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
18
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
19
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
20
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
22
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
23
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
24
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
25
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
26
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: